For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
58
views
106
references
 Top references
cited by
51
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      246
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      An Updated Review on the Genetics of Primary Open Angle Glaucoma

      review-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Epidemiological studies suggest that by 2020 the prevalence of primary open angle glaucoma (POAG) is estimated to increase to 76.0 million, and to 111.8 million by 2040 globally due to the population aging. The prevalence of POAG is the highest among those of African descent, followed by Asians, and the lowest in Europeans. POAG is a genetically complex trait with a substantial fraction exhibiting a significant heritability. Less than 10% of POAG cases in the general population are caused by specific gene mutations and the remaining cases are polygenic. Quantitative traits related to POAG pathogenesis such as intra-ocular pressure (IOP), vertical cup/disc ratio (VCDR), optic disc area, and central corneal thickness (CCT) are highly heritable, and likely to be influenced at least in part by genes and show substantial variation in human populations. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes). The chapter provides a brief overview on the different GWAS and SNP association studies and their correlation with various clinical parameters important for POAG in the population worldwide, including the Middle East.

          Related collections

          Most cited references106

          • Record: found
          • Abstract: found
          • Article: not found

          The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma.

          Mae Gordon, Julia A Beiser, James Brandt … (2002)
          The Ocular Hypertension Treatment Study (OHTS) has shown that topical ocular hypotensive medication is effective in delaying or preventing the onset of primary open-angle glaucoma (POAG) in individuals with elevated intraocular pressure (ocular hypertension) and no evidence of glaucomatous damage. To describe baseline demographic and clinical factors that predict which participants in the OHTS developed POAG. Baseline demographic and clinical data were collected prior to randomization except for corneal thickness measurements, which were performed during follow-up. Proportional hazards models were used to identify factors that predicted which participants in the OHTS developed POAG. In univariate analyses, baseline factors that predicted the development of POAG included older age, race (African American), sex (male), larger vertical cup-disc ratio, larger horizontal cup-disc ratio, higher intraocular pressure, greater Humphrey visual field pattern standard deviation, heart disease, and thinner central corneal measurement. In multivariate analyses, baseline factors that predicted the development of POAG included older age, larger vertical or horizontal cup-disc ratio, higher intraocular pressure, greater pattern standard deviation, and thinner central corneal measurement. Baseline age, vertical and horizontal cup-disc ratio, pattern standard deviation, and intraocular pressure were good predictors for the onset of POAG in the OHTS. Central corneal thickness was found to be a powerful predictor for the development of POAG.
          Article 0 comments Cited 415 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            p15INK4B is a potential effector of TGF-beta-induced cell cycle arrest.

            G J Hannon, D Beach (1994)
            Transforming growth factor-beta (TGF-beta) inhibits cell proliferation by inducing a G1-phase cell cycle arrest. Normal progression through G1 is promoted by the activity of the cyclin-dependent protein kinases CDK4 and CDK6 (ref. 2), which are inhibited by the protein p16INK4. We have isolated a new member of the p16INK4 family, p15INK4B. p15 expression is induced approximately 30-fold in human keratinocytes by treatment with TGF-beta, suggesting that p15 may act as an effector of TGF-beta-mediated cell cycle arrest. The gene encoding p15 is located on chromosome 9 adjacent to the p16 gene at a frequent site of chromosomal abnormality in human tumours (9p21).
            Article 0 comments Cited 238 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Racial variations in the prevalence of primary open-angle glaucoma. The Baltimore Eye Survey.

              J Tielsch, A Sommer, J. Katz … (1991)
              --To compare the prevalence of primary open-angle glaucoma between black and white Americans. --The design was a population-based prevalence survey of a noninstitutionalized black and white population aged 40 years or older from the eastern and southeastern health districts of Baltimore, Md. A multistage random sampling strategy was used to identify 7104 eligible participants, of whom 5308 (2395 blacks, 2913 whites) received an ophthalmologic screening examination. Those with abnormalities were referred for definitive diagnostic evaluation. --Primary open-angle glaucoma was defined based on evidence of glaucomatous optic nerve damage, including abnormal visual fields and/or severe optic disc cupping, and was independent of intraocular pressure. --Age-adjusted prevalence rates for primary open-angle glaucoma were four to five times higher in blacks as compared with whites. Rates among blacks ranged from 1.23% in those aged 40 through 49 years to 11.26% in those 80 years or older, whereas rates for whites ranged from 0.92% to 2.16%, respectively. There was no difference in rates of primary open-angle glaucoma between men and women for either blacks or whites in this population. Based on these data, an estimated 1.6 million persons aged 40 years or older in the United States have primary open-angle glaucoma. --Black Americans are at higher risk of primary open-angle glaucoma than their white neighbors. This may reflect an underlying genetic susceptibility to this disease and indicates that additional efforts are needed to identify and treat this sight-threatening disorder in high-risk communities.
              Article 0 comments Cited 182 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Emil Alexov: Role: Academic Editor
                Journal
                Journal ID (nlm-ta): Int J Mol Sci
                Journal ID (iso-abbrev): Int J Mol Sci
                Journal ID (publisher-id): ijms
                Title: International Journal of Molecular Sciences
                Publisher: MDPI
                ISSN (Electronic): 1422-0067
                Publication date (Electronic): 04 December 2015
                Publication date Collection: December 2015
                Volume: 16
                Issue: 12
                Pages: 28886-28911
                Affiliations
                [1 ]Glaucoma Research Chair, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh 11424, Saudi Arabia; Khaled.Abu-Amero@ 123456jax.ufl.edu (K.A.-A.); akondkar@ 123456gmail.com (A.A.K.)
                [2 ]Department of Ophthalmology, University of Florida College of Medicine, 580, W, 8th Street, Tower-2, Jacksonville, FL 32209, USA
                Author notes
                [* ]Correspondence: kakarla.chalam@ 123456jax.ufl.edu ; Tel.: +904-244-9361; Fax: +904-244-9391
                Article
                Publisher ID: ijms-16-26135
                DOI: 10.3390/ijms161226135
                PMC ID: 4691082
                PubMed ID: 26690118
                SO-VID: 09771602-4bb7-48aa-876c-22be3d1d5368
                Copyright © © 2015 by the authors; licensee MDPI, Basel, Switzerland.
                License:

                This article is an open access article distributed under the terms and conditions of the Creative Commons by Attribution (CC-BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 27 October 2015
                Date accepted : 27 November 2015
                Categories
                Subject: Review

                ScienceOpen disciplines: Molecular biology
                Keywords: epidemiology,genetics,gwas,poag,quantitative traits,snp genotyping
                Data availability:
                ScienceOpen disciplines: Molecular biology
                Keywords: epidemiology, genetics, gwas, poag, quantitative traits, snp genotyping

                Comments

                Comment on this article

                scite_

                Similar content246

                See all similar

                Cited by51

                See all cited by

                Most referenced authors1,457

                See all reference authors